← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-83082542-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83082542&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DOP1A",
"hgnc_id": 21194,
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001199942.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 119669,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.04,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0399999618530273,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7957,
"cdna_start": null,
"cds_end": null,
"cds_length": 7398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015018.4",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349129.7",
"protein_coding": true,
"protein_id": "NP_055833.2",
"strand": true,
"transcript": "NM_015018.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7957,
"cdna_start": null,
"cds_end": null,
"cds_length": 7398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349129.7",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015018.4",
"protein_coding": true,
"protein_id": "ENSP00000195654.3",
"strand": true,
"transcript": "ENST00000349129.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7990,
"cdna_start": null,
"cds_end": null,
"cds_length": 7431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199942.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186871.1",
"strand": true,
"transcript": "NM_001199942.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": null,
"cds_end": null,
"cds_length": 7431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385863.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372792.1",
"strand": true,
"transcript": "NM_001385863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7995,
"cdna_start": null,
"cds_end": null,
"cds_length": 7431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000237163.9",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000237163.6",
"strand": true,
"transcript": "ENST00000237163.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7837,
"cdna_start": null,
"cds_end": null,
"cds_length": 7371,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385865.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372794.1",
"strand": true,
"transcript": "NM_001385865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7920,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385856.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372785.1",
"strand": true,
"transcript": "NM_001385856.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7927,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385860.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372789.1",
"strand": true,
"transcript": "NM_001385860.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7834,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385861.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372790.1",
"strand": true,
"transcript": "NM_001385861.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7257,
"cdna_start": null,
"cds_end": null,
"cds_length": 6810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385858.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-35+14763A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372787.1",
"strand": true,
"transcript": "NM_001385858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2040,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7347,
"cdna_start": null,
"cds_end": null,
"cds_length": 6123,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385859.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-480+14763A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372788.1",
"strand": true,
"transcript": "NM_001385859.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1953,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7840,
"cdna_start": null,
"cds_end": null,
"cds_length": 5862,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385864.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-1565-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372793.1",
"strand": true,
"transcript": "NM_001385864.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9421,
"cdna_start": null,
"cds_end": null,
"cds_length": 7458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010559.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866048.1",
"strand": true,
"transcript": "XM_017010559.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9328,
"cdna_start": null,
"cds_end": null,
"cds_length": 7458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010560.3",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866049.1",
"strand": true,
"transcript": "XM_017010560.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9414,
"cdna_start": null,
"cds_end": null,
"cds_length": 7458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418428.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274384.1",
"strand": true,
"transcript": "XM_047418428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9394,
"cdna_start": null,
"cds_end": null,
"cds_length": 7431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010561.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866050.1",
"strand": true,
"transcript": "XM_017010561.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": null,
"cds_end": null,
"cds_length": 7431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010562.3",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866051.1",
"strand": true,
"transcript": "XM_017010562.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9391,
"cdna_start": null,
"cds_end": null,
"cds_length": 7428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011535619.3",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533921.1",
"strand": true,
"transcript": "XM_011535619.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9298,
"cdna_start": null,
"cds_end": null,
"cds_length": 7428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418430.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274386.1",
"strand": true,
"transcript": "XM_047418430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9384,
"cdna_start": null,
"cds_end": null,
"cds_length": 7428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418431.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274387.1",
"strand": true,
"transcript": "XM_047418431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9271,
"cdna_start": null,
"cds_end": null,
"cds_length": 7401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418432.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274388.1",
"strand": true,
"transcript": "XM_047418432.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9361,
"cdna_start": null,
"cds_end": null,
"cds_length": 7398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010564.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866053.1",
"strand": true,
"transcript": "XM_017010564.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9241,
"cdna_start": null,
"cds_end": null,
"cds_length": 7371,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418433.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274389.1",
"strand": true,
"transcript": "XM_047418433.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9331,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418434.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274390.1",
"strand": true,
"transcript": "XM_047418434.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9238,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418435.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274391.1",
"strand": true,
"transcript": "XM_047418435.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9324,
"cdna_start": null,
"cds_end": null,
"cds_length": 7368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418436.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274392.1",
"strand": true,
"transcript": "XM_047418436.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9322,
"cdna_start": null,
"cds_end": null,
"cds_length": 7359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010570.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866059.1",
"strand": true,
"transcript": "XM_017010570.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9229,
"cdna_start": null,
"cds_end": null,
"cds_length": 7359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418438.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274394.1",
"strand": true,
"transcript": "XM_047418438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9316,
"cdna_start": null,
"cds_end": null,
"cds_length": 7353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010571.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866060.1",
"strand": true,
"transcript": "XM_017010571.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9199,
"cdna_start": null,
"cds_end": null,
"cds_length": 7329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418439.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274395.1",
"strand": true,
"transcript": "XM_047418439.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9292,
"cdna_start": null,
"cds_end": null,
"cds_length": 7329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418440.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274396.1",
"strand": true,
"transcript": "XM_047418440.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9285,
"cdna_start": null,
"cds_end": null,
"cds_length": 7329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418441.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274397.1",
"strand": true,
"transcript": "XM_047418441.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9271,
"cdna_start": null,
"cds_end": null,
"cds_length": 7308,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010572.2",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866061.1",
"strand": true,
"transcript": "XM_017010572.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9977,
"cdna_start": null,
"cds_end": null,
"cds_length": 7293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418442.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274398.1",
"strand": true,
"transcript": "XM_047418442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9256,
"cdna_start": null,
"cds_end": null,
"cds_length": 7293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418443.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274399.1",
"strand": true,
"transcript": "XM_047418443.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9139,
"cdna_start": null,
"cds_end": null,
"cds_length": 7269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418444.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274400.1",
"strand": true,
"transcript": "XM_047418444.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9232,
"cdna_start": null,
"cds_end": null,
"cds_length": 7269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418445.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274401.1",
"strand": true,
"transcript": "XM_047418445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2420,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9854,
"cdna_start": null,
"cds_end": null,
"cds_length": 7263,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418446.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274402.1",
"strand": true,
"transcript": "XM_047418446.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2415,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9932,
"cdna_start": null,
"cds_end": null,
"cds_length": 7248,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418447.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274403.1",
"strand": true,
"transcript": "XM_047418447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2415,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9211,
"cdna_start": null,
"cds_end": null,
"cds_length": 7248,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418448.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274404.1",
"strand": true,
"transcript": "XM_047418448.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9809,
"cdna_start": null,
"cds_end": null,
"cds_length": 7218,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418449.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-53-14383A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274405.1",
"strand": true,
"transcript": "XM_047418449.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2387,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9848,
"cdna_start": null,
"cds_end": null,
"cds_length": 7164,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418450.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274406.1",
"strand": true,
"transcript": "XM_047418450.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9827,
"cdna_start": null,
"cds_end": null,
"cds_length": 7143,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418451.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274407.1",
"strand": true,
"transcript": "XM_047418451.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2367,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8955,
"cdna_start": null,
"cds_end": null,
"cds_length": 7104,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418452.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-35+14763A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274408.1",
"strand": true,
"transcript": "XM_047418452.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8925,
"cdna_start": null,
"cds_end": null,
"cds_length": 7074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418453.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-35+14763A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274409.1",
"strand": true,
"transcript": "XM_047418453.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7709,
"cdna_start": null,
"cds_end": null,
"cds_length": 7002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010573.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866062.1",
"strand": true,
"transcript": "XM_017010573.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7229,
"cdna_start": null,
"cds_end": null,
"cds_length": 6948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010574.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866063.1",
"strand": true,
"transcript": "XM_017010574.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7199,
"cdna_start": null,
"cds_end": null,
"cds_length": 6918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418454.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-146-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274410.1",
"strand": true,
"transcript": "XM_047418454.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9382,
"cdna_start": null,
"cds_end": null,
"cds_length": 6810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418455.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "c.-35+14763A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274411.1",
"strand": true,
"transcript": "XM_047418455.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7794,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_169790.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "n.110-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_169790.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9334,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_169791.1",
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"hgvs_c": "n.110-14189A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_169791.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2182233",
"effect": "intron_variant",
"frequency_reference_population": 0.78680944,
"gene_hgnc_id": 21194,
"gene_symbol": "DOP1A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 119669,
"gnomad_genomes_af": 0.786809,
"gnomad_genomes_homalt": 47187,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 47187,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.792,
"pos": 83082542,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001199942.2"
}
]
}